Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeName |
gptkb:CK14
cytokeratin 14 keratin, type I cytoskeletal 14 |
| gptkbp:associatedWith |
gptkb:epidermolysis_bullosa_simplex
Naegeli-Franceschetti-Jadassohn syndrome dermatopathia pigmentosa reticularis |
| gptkbp:discoveredIn |
1980s
|
| gptkbp:encodes |
keratin 14
|
| gptkbp:Entrez_Gene_ID |
3861
|
| gptkbp:expressedIn |
basal cells of the epidermis
|
| gptkbp:function |
structural support in epithelial cells
|
| gptkbp:HGNC_ID |
HGNC:6446
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_17
17q21.2 |
| gptkbp:mutationAssociatedWith |
skin blistering disorders
|
| gptkbp:OMIM |
148066
|
| gptkbp:orthologInMouse |
Krt14
|
| gptkbp:proteinFamily |
type I keratins
|
| gptkbp:UniProtID |
P02533
|
| gptkbp:bfsParent |
gptkb:K14
|
| gptkbp:bfsLayer |
8
|
| https://www.w3.org/2000/01/rdf-schema#label |
KRT14 gene
|